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Phenotype Images associated with this Allele
Nomenclature
Symbol: Tbc1d32b2b2284Clo
Name: TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 2284 Cecilia Lo
MGI ID: MGI:5491268
Synonyms: Walter
Images for
Allele
Click images for details
Image Caption Genotypes involving this allele
Allelic Composition Genetic Background
Mutant 2284-002-3 (E15.5) presents with globular heart exhibiting left pulmonary isomerism and possible single outflow tract indicative of persistent truncus arteriosus (PTA), which was confirmed by EFIC histologyTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 (E15.5) presents with globular heart and possible single outflow tract indicative of persistent truncus arteriosus (PTA), which was confirmed by EFIC histology.Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of mutant 2284-002-3 (E15.5) shows PTA (Type A-4), atrioventricular septal defect (AVSD), tracheoesophageal fistula, right atrial isomerism, complete vascular ring, and dilated esophagus
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 (E15.5) presents with facial cleft and anophthalmia, preaxial digit duplication on all four limbs, and hydropsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 (E15.5) has anophthalmia and a cleft lipTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 (E15.5) presents with persistent truncus arteriosus (PTA) and heterotaxy comprising of levocardia and dextrogastriaTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 (E15.5) exhibits abnormal gonad development with possible kidney cystsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-3 has glomerular and tubular cystsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
2D ultrasound imaging of mutant 2284-002-3 (E15.5) in the frontal view shows heart apex pointing to the left whereas stomach is on the right side, which suggests heterotaxy
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Color flow Doppler imaging of mutant 2284-002-3 (E15.5) in the transverse view shows AVSDTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Color flow Doppler imaging of mutant 2284-002-3 (E15.5) in the frontal view shows common truncus (CT) sitting on the ventricular septum and a VSD, which suggests perisitent truncus arteriosus (PTA)Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
2D ultrasound imaging of mutant 2284-002-3 (E15.5) in the frontal view shows a cleft lip
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-4 (E15.5) has anophthalmia, cleft lip, and hydropsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-4 (E15.5) has anophthalmia with facial cleft, preaxial digit duplication on all 4 limbs, and hydropsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-4 (E15.5) exhibits globular heart with persistent truncus arteriosus (PTA) with congested atriaTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-4 (E15.5) exhibits left lung isomerism (1R/1L)Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of 2284-002-4 (E15.5) shows DORV, AVSD, hypoplastic PA, ductus aplasia, LV hypertrophy, tracheoesophageal fistula, and dilated esophagus
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-4 has glomerular and tubular cystsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 (E15.5) has anophthalmia with preaxial digit duplication on all 4 limbsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 (E15.5) exhibits a bird face phenotype with anopthalmia and a short and narrow snoutTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 (E15.5) exhibits a narrow snout, with pointed and narrow nostrilsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 (E15.5) presents with premature closure of the ductus arteriosus and possible pulmonary hypoplasiaTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of 2284-002-2 (E15.5) reveals DORV, AVSD, mild hypoplastic PA, bilateral single lung lobe, and narrow ductus arteriosus
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 (E15.5) exhibits abnormal gonad development and positioningTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-2 has glomerular and tubular cystsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-1 (E15.5) has preaxial digit duplication on all limbs (6 digits on hindlimbs, 7 digits on forelimbs), anophthalmia, and hydropsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-1 (E15.5) has single outflow tract indicative of possible persistent truncus arteriosus (PTA), right aortic arch (RAA), and left lung isomerismTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of 2284-002-1 (E15.5) shows persistent truncus arteriosus (PTA), atrioventricular septal defect (AVSD), tracheoesophageal fistula, right atrial isomerism, vascular ring, and dilated esophagus
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-002-1 (E15.5) presents with possible cystic kidneys and abnormal gonad development and placementTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-3 (E16.5) presents with anophthalmia, short snout, micrognathia, and hydropsTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-3 (E16.5) has preaxial digit duplicationTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-3 (E16.5) presents with right aortic arch (RAA), malaligned great arteries, and hypoplastic pulmonary, which was shown by EFIC histology to be a double outlet right ventricle (DORV) with pulmonary stenosis and vascular ringTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of 2284-005-3 (E16.5) reveals PTA (Type A-1) {A,D,D}, right aortic arch, incomplete vascular ring, left atrial isomerism, biventricular hypertrophy, tracheoesophageal fistula
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-3 kidneys have cystic tubules and glomeruliTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-3 kidneys have cystic tubules and glomeruliTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-2 (E16.5) has anophthalmia, a short snout and micrognathiaTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-2 (E16.5) has preaxial digit duplicationTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-2 (E16.5) exhibits heterotaxy wiith left-sided stomach and right sided pancreasTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Mutant 2284-005-2 (E16.5) presents with transposition of the great arteries (TGA), right aortic arch, and left lung isomerism (1R/1L)Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Serial 2D EFIC image stack in the coronal plane of 2284-005-2 (E16.5) reveals DORV {A, D, D}, AVSD, RAA, hypoplastic PA, ductus arteriosis aplasia, left atrial isomerism, tracheoesophageal fistula, dilated esophagus, and biventricular hypertrophy
Click thumbnail to play movie.		Tbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
EFIC SummaryTbc1d32b2b2284Clo/Tbc1d32b2b2284CloC57BL/6J-Tbc1d32b2b2284Clo
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory